Canonical Allele Identifier: CA2153346432

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968335G= , CM000676.2:g.87968335G=	GRCh38
NC_000014.8:g.88434679G= , CM000676.1:g.88434679G=	GRCh37
NC_000014.7:g.87504432G=	NCBI36
NG_011853.2:g.30229C=
NG_011853.3:g.30229C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.908C= MANE Select	ENSP00000261304.2:p.Ser303=
ENST00000261304.6:c.908C=	ENSP00000261304.2:p.Ser303=
ENST00000393568.8:c.839C=	ENSP00000377198.4:p.Ser280=
ENST00000393569.6:c.830C=	ENSP00000377199.2:p.Ser277=
ENST00000474294.6:n.898C=
ENST00000544807.6:c.740C=	ENSP00000437513.2:p.Ser247=
ENST00000555000.5:c.275C=	ENSP00000450472.1:p.Ser92=
ENST00000557316.5:c.*306C=	ENSP00000452314.1:n.*306C=
ENST00000622264.4:c.898C=
NM_000153.3:c.908C=	NP_000144.2:p.Ser303=
NM_001201401.1:c.839C=	NP_001188330.1:p.Ser280=
NM_001201402.1:c.830C=	NP_001188331.1:p.Ser277=
XM_011536618.1:c.740C=	XP_011534920.1:p.Ser247=
XM_011536618.2:c.740C=	XP_011534920.1:p.Ser247=
NM_000153.4:c.908C= MANE Select	NP_000144.2:p.Ser303=
NM_001201401.2:c.839C=	NP_001188330.1:p.Ser280=
NM_001201402.2:c.830C=	NP_001188331.1:p.Ser277=